"GeneDx"[submitter] AND "LOC110121269"[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1303973	NM_000335.5(SCN5A):c.3377G>A (p.Gly1126Glu)	LOC110121269, SCN5A (G1126E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 165143	NM_000335.5(SCN5A):c.3375A>G (p.Pro1125=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1172406	NM_000335.5(SCN5A):c.3365C>T (p.Pro1122Leu)	LOC110121269, SCN5A (P1122L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 48300	NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Dilated Cardiomyopathy, Dominant +11 more	GConflicting classifications of pathogenicity
Select item 658312	NM_000335.5(SCN5A):c.3359C>T (p.Ala1120Val)	LOC110121269, SCN5A (A1121V +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia +2 more	GConflicting classifications of pathogenicity
Select item 222808	NM_000335.5(SCN5A):c.3349C>T (p.Gln1117Ter)	LOC110121269, SCN5A (Q1117* +1 more)	Single nucleotide variant (nonsense +1 more)	Brugada syndrome +1 more	GPathogenic/Likely pathogenic
Select item 48299	NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln)	LOC110121269, SCN5A (R1115Q +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 67793	NM_000335.5(SCN5A):c.3343C>T (p.Arg1115Trp)	LOC110121269, SCN5A (R1115W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +11 more	GUncertain significance
Select item 67792	NM_000335.5(SCN5A):c.3337G>A (p.Asp1113Asn)	LOC110121269, SCN5A (D1113N +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 669496	NM_000335.5(SCN5A):c.3336C>T (p.Ala1112=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +2 more	GLikely benign
Select item 201492	NM_000335.5(SCN5A):c.3322A>G (p.Ser1108Gly)	LOC110121269, SCN5A (S1108G +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 67790	NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys)	LOC110121269, SCN5A (E1106K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 264627	NM_000335.5(SCN5A):c.3315C>T (p.Ala1105=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Ventricular fibrillation, paroxysmal familial, type 1 +8 more	GConflicting classifications of pathogenicity
Select item 9393	NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)	LOC110121269, SCN5A (S1103Y +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital long QT syndrome +15 more	GConflicting classifications of pathogenicity
Select item 629666	NM_000335.5(SCN5A):c.3297G>A (p.Ala1099=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 3338726	NM_000335.5(SCN5A):c.3296C>G (p.Ala1099Gly)	LOC110121269, SCN5A (A1099G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 67789	NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val)	LOC110121269, SCN5A (A1099V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 432236	NM_000335.5(SCN5A):c.3282G>T (p.Trp1094Cys)	LOC110121269, SCN5A (W1094C +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 378544	NM_000335.5(SCN5A):c.3273C>T (p.Ser1091=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia +1 more	GLikely benign
Select item 48298	NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)	LOC110121269, SCN5A (P1089L +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +13 more	GBenign/Likely benign
Select item 178130	NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr)	LOC110121269, SCN5A (A1087T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 179524	NM_000335.5(SCN5A):c.3258G>A (p.Glu1086=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 178131	NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 422443	NM_000335.5(SCN5A):c.3244del (p.Ser1082fs)	LOC110121269, SCN5A (S1083fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 463323	NM_000335.5(SCN5A):c.3243G>A (p.Val1081=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1210983	NM_000335.5(SCN5A):c.3240T>C (p.Pro1080=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 201491	NM_000335.5(SCN5A):c.3232T>A (p.Ser1078Thr)	LOC110121269, SCN5A (S1078T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia +10 more	GUncertain significance
Select item 1201446	NM_000335.5(SCN5A):c.3229-33G>A	LOC110121269, SCN5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680767	NM_000335.5(SCN5A):c.3229-254G>C	LOC110121269, SCN5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 345120	NM_000335.5(SCN5A):c.3228+6C>G	LOC110121269, SCN5A	Single nucleotide variant (intron variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 503982	NM_000335.5(SCN5A):c.3214_3215inv (p.Glu1072Ser)	LOC110121269, SCN5A (E1072S)	Inversion (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 178132	NM_000335.5(SCN5A):c.3207G>A (p.Thr1069=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 67782	NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met)	LOC110121269, SCN5A (T1069M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 264329	NM_000335.5(SCN5A):c.3192G>A (p.Glu1064=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 201565	NM_000335.5(SCN5A):c.3187GAG[1] (p.Glu1064del)	LOC110121269, SCN5A (E1064del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 48297	NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Sick sinus syndrome 1 +10 more	GBenign/Likely benign
Select item 1306090	NM_000335.5(SCN5A):c.3165_3170del (p.Thr1056_Asp1057del)	LOC110121269, SCN5A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 381330	NM_000335.5(SCN5A):c.3159G>A (p.Glu1053=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 9400	NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)	LOC110121269, SCN5A (E1053K)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +5 more	GConflicting classifications of pathogenicity
Select item 705303	NM_000335.5(SCN5A):c.3156C>T (p.Ala1052=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 463321	NM_000335.5(SCN5A):c.3155C>A (p.Ala1052Asp)	LOC110121269, SCN5A (A1052D)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 201564	NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs)	LOC110121269, SCN5A (P1048fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic
Select item 565598	NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr)	LOC110121269, SCN5A (A1050T)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +10 more	GConflicting classifications of pathogenicity
Select item 699240	NM_000335.5(SCN5A):c.3147C>T (p.Ile1049=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 413937	NM_000335.5(SCN5A):c.3132C>T (p.Pro1044=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 201583	NM_000335.5(SCN5A):c.3121G>A (p.Asp1041Asn)	LOC110121269, SCN5A (D1041N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1514126	NM_000335.5(SCN5A):c.3119G>A (p.Gly1040Glu)	LOC110121269, SCN5A (G1040E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 413934	NM_000335.5(SCN5A):c.3117C>T (p.Pro1039=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GLikely benign
Select item 201562	NM_000335.5(SCN5A):c.3112delinsCCC (p.Thr1038fs)	LOC110121269, SCN5A (T1038fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 381372	NM_000335.5(SCN5A):c.3111C>A (p.Gly1037=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 3371829	NM_000335.5(SCN5A):c.3110G>T (p.Gly1037Val)	LOC110121269, SCN5A (G1037V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 67776	NM_000335.5(SCN5A):c.3098A>G (p.Gln1033Arg)	LOC110121269, SCN5A (Q1033R)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 201490	NM_000335.5(SCN5A):c.3094G>A (p.Glu1032Lys)	LOC110121269, SCN5A (E1032K)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GConflicting classifications of pathogenicity
Select item 201489	NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +11 more	GUncertain significance
Select item 424500	NM_000335.5(SCN5A):c.3085G>A (p.Glu1029Lys)	LOC110121269, SCN5A (E1029K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 520458	NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln)	LOC110121269, SCN5A (R1027Q)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +11 more	GConflicting classifications of pathogenicity
Select item 969680	NM_000335.5(SCN5A):c.3068G>C (p.Arg1023Pro)	LOC110121269, SCN5A (R1023P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 67775	NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)	LOC110121269, SCN5A (R1023H)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 574312	NM_000335.5(SCN5A):c.3067C>T (p.Arg1023Cys)	LOC110121269, SCN5A (R1023C)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +4 more	GUncertain significance
Select item 201484	NM_000335.5(SCN5A):c.3061C>T (p.Pro1021Ser)	LOC110121269, SCN5A (P1021S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 201420	NM_000335.5(SCN5A):c.3048G>A (p.Thr1016=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +3 more	GBenign/Likely benign
Select item 2435757	NM_000335.5(SCN5A):c.3047C>A (p.Thr1016Lys)	LOC110121269, SCN5A (T1016K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 67774	NM_000335.5(SCN5A):c.3047C>T (p.Thr1016Met)	LOC110121269, SCN5A (T1016M)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +10 more	GConflicting classifications of pathogenicity
Select item 670438	NM_000335.5(SCN5A):c.3033G>C (p.Pro1011=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +2 more	GLikely benign
Select item 378543	NM_000335.5(SCN5A):c.3033G>A (p.Pro1011=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 403421	NM_000335.5(SCN5A):c.3032C>T (p.Pro1011Leu)	LOC110121269, SCN5A (P1011L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 406419	NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs)	LOC110121269, SCN5A (C1004fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 67772	NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)	LOC110121269, SCN5A (C1004R)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 165149	NM_000335.5(SCN5A):c.2990C>A (p.Ala997Asp)	LOC110121269, SCN5A (A997D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 67771	NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)	LOC110121269, SCN5A (A997T)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +10 more	GConflicting classifications of pathogenicity
Select item 9388	NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)	LOC110121269, SCN5A (A997S)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 1011351	NM_000335.5(SCN5A):c.2987C>A (p.Ala996Asp)	LOC110121269, SCN5A (A996D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 36759	NM_000335.5(SCN5A):c.2976C>T (p.Pro992=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 423683	NM_000335.5(SCN5A):c.2973G>A (p.Lys991=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 201551	NM_000335.5(SCN5A):c.2963G>A (p.Arg988Gln)	LOC110121269, SCN5A (R988Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +11 more	GUncertain significance
Select item 201486	NM_000335.5(SCN5A):c.2962C>T (p.Arg988Trp)	LOC110121269, SCN5A (R988W)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +9 more	GUncertain significance
Select item 67770	NM_000335.5(SCN5A):c.2957G>A (p.Arg986Gln)	LOC110121269, SCN5A (R986Q)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 201485	NM_000335.5(SCN5A):c.2956C>T (p.Arg986Trp)	LOC110121269, SCN5A (R986W)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 67769	NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)	LOC110121269, SCN5A (C982R)	Single nucleotide variant (missense variant)	Sudden cardiac arrest +12 more	GConflicting classifications of pathogenicity
Select item 391728	NM_000335.5(SCN5A):c.2931C>G (p.Thr977=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 201483	NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln)	LOC110121269, SCN5A (R975Q)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +10 more	GUncertain significance
Select item 67766	NM_000335.5(SCN5A):c.2911C>T (p.Arg971Cys)	LOC110121269, SCN5A (R971C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 242191	NM_000335.5(SCN5A):c.2886C>T (p.Ala962=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia +1 more	GBenign/Likely benign
Select item 418944	NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs)	LOC110121269, SCN5A (E955fs)	Microsatellite (frameshift variant)	Brugada syndrome +5 more	GConflicting classifications of pathogenicity
Select item 201482	NM_000335.5(SCN5A):c.2859C>G (p.Asp953Glu)	LOC110121269, SCN5A (D953E)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +2 more	GUncertain significance
Select item 201481	NM_000335.5(SCN5A):c.2848C>T (p.Pro950Ser)	LOC110121269, SCN5A (P950S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1199170	NM_000335.5(SCN5A):c.2841C>T (p.Leu947=)	LOC110121269, SCN5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 940929	NM_000335.5(SCN5A):c.2816T>C (p.Leu939Pro)	LOC110121269, SCN5A (L939P)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 201465	NM_000335.5(SCN5A):c.2788-2A>G	LOC110121269, SCN5A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 48296	NM_000335.5(SCN5A):c.2788-6C>T	LOC110121269, SCN5A	Single nucleotide variant (intron variant)	Progressive familial heart block, type 1A +9 more	GBenign/Likely benign
Select item 385098	NM_000335.5(SCN5A):c.2788-15C>G	LOC110121269, SCN5A	Single nucleotide variant (intron variant)	Cardiac arrhythmia +1 more	GConflicting classifications of pathogenicity

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Items: 91